Lysosomal Storage Disorders

✍ Scribed by John A. Barranger MD, PhD, Mario A. Cabrera-Salazar MD (auth.)

• Publisher: Springer US
• Year: 2007
• Tongue: English
• Leaves: 562
• Edition: 1
• Category: Library

✦ Synopsis

Lysosomal Biology and Storage Disorders

John A. Barranger and Mario A. Cabrera-Salazar

The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities.

Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area.

Lysosomal Biology and Storage Disorders will be attract to all researchers in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease.

This book is dedicated to patients affected by Lysosomal Storage Disorders, and especially to the National Gaucher Foundation (USA) and the Colombian Association of Patients with Lysosomal Storage Diseases (ACOPEL for its Spanish Acronym). Both organizations will share in the sales of this book.

About the Editors:

John A. Barranger, M.D., Ph.D. is a Professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh School of Medicine.

He has also served as director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center in this institution

Mario A. Cabrera-Salazar, MD is a Staff Scientist at Genzyme Corporation in Framingham, MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science.

✦ Table of Contents

Front Matter....Pages i-xix
From Lysosomes to Storage Diseases and Back: A Personal Reminiscence....Pages 1-5
Lysosomal Biogenesis and Disease....Pages 7-36
The Concept of Treatment in Lysosomal Storage Diseases....Pages 37-43
Complex Lipid Catabolism....Pages 45-52
Retroviral Vectors for Gene Therapy....Pages 53-67
Adenovirus in Gene Therapy....Pages 69-80
Setting Back the Clock: Adenoviral-Mediated Gene Therapy for Lysosomal Storage Disorders....Pages 81-95
Adeno-Associated Viral-Mediated Gene Therapy of Lysosomal Storage Disorders....Pages 97-109
Herpes Simplex Virus Vectors for Gene Therapy of Lysosomal Storage Disorders....Pages 111-131
Gene Therapy of Lysosomal Storage Disorders by Lentiviral Vectors....Pages 133-151
Substrate Reduction Therapy....Pages 153-168
Newborn Screening for Lysosomal Storage Disorders....Pages 169-178
Genetic Counseling for Lysosomal Storage Diseases....Pages 179-195
Neural Stem Cell Therapy in Lysosomal Storage Disorders....Pages 197-216
The GM1 Gangliosidoses....Pages 217-228
The GM2 Gangliosidoses....Pages 229-256
Acid Sphingomyelinase-Deficient Niemann–Pick Disease....Pages 257-268
Krabbe Disease (Globoid Cell Leukodystrophy)....Pages 269-283
Metachromatic Leukodystrophy....Pages 285-306
Fabry Disease....Pages 307-318
Gaucher Disease: Review and Perspectives on Treatment....Pages 319-343
Therapeutic Goals in the Treatment of Gaucher Disease....Pages 345-370
The Neuronal Ceroid Lipofuscinoses: Clinical Features and Molecular Basis of Disease....Pages 371-388
Mucopolysaccharidosis I....Pages 389-405
Mucopolysaccharidosis II (Hunter Syndrome)....Pages 407-414
Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies....Pages 415-432
Mucopolysaccharidosis IV (Morquio Syndrome)....Pages 433-445
Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)....Pages 447-456
Mucopolysaccharidosis Type VII (Sly Disease): Clinical, Genetic Diagnosis and Therapies....Pages 457-472
Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency....Pages 473-498
Lysosomal Free Sialic Acid Storage Disorders: Salla Disease and ISSD....Pages 499-511
Cystinosis....Pages 513-527
I-Cell Disease....Pages 529-537
Back Matter....Pages 539-562

✦ Subjects

Human Genetics; Epidemiology; Biochemistry, general; Cell Biology